Concepedia
2
Publications
120
Citations
H-Index
1999
Active since
Affiliations
CEA Grenoble(Current)
Commissariat à l'Énergie Atomique et aux Énergies Alternatives
Centre Hospitalier Universitaire de Grenoble
Florence Berthoin is an author at CEA Grenoble specializing in molecular genetics, germline genetics, and genomics.
Top concepts
GeneticsGenomicsMedicinePathologyGermline GeneticsMolecular Genetics
Publications per year
1999–2000
OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling
Nicole Monnier, Véronique Satre, Eliane Lerouge et al. · Human Mutation · 2000 · 65 citations
Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene
Véronique Satre, Nicole Monnier, Florence Berthoin et al. · The American Journal of Human Genetics · 1999 · 55 citations
Genetic Disorder, Genetics, Ocrl1 Gene +8
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